NM_000243.2(MEFV):c.297C>T (p.Asn99=) AND Familial mediterranean fever, autosomal dominant

Clinical significance:Benign (Last evaluated: Jan 10, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001276302.1

Allele description [Variation Report for NM_000243.2(MEFV):c.297C>T (p.Asn99=)]

NM_000243.2(MEFV):c.297C>T (p.Asn99=)

Gene:
MEFV:MEFV innate immuity regulator, pyrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000243.2(MEFV):c.297C>T (p.Asn99=)
HGVS:
  • NC_000016.10:g.3254771G>A
  • NG_007871.1:g.6857C>T
  • NM_000243.2:c.297C>T
  • NM_001198536.1:c.277+1540C>T
  • NP_000234.1:p.Asn99=
  • LRG_190t1:c.297C>T
  • LRG_190:g.6857C>T
  • LRG_190p1:p.Asn99=
  • NC_000016.9:g.3304771G>A
  • NM_000243.1:c.297C>T
Links:
dbSNP: rs104895175
NCBI 1000 Genomes Browser:
rs104895175
Molecular consequence:
  • NM_001198536.1:c.277+1540C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000243.2:c.297C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Familial mediterranean fever, autosomal dominant (DFMF)
Synonyms:
FMF, AUTOSOMAL DOMINANT; Dominant Familial Mediterranean Fever
Identifiers:
MONDO: MONDO:0007601; MedGen: C1851347; Orphanet: 342; OMIM: 134610

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001462432Natera, Inc.no assertion criteria providedBenign
(Jan 10, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001462432.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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